G96E (p.Gly96Glu) variant of XPC (Q01831)
G96E (p.Gly96Glu) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
G96E (p.Gly96Glu) variant details
- p.Gly96Glu
- 1000Genomes rs369470201
- ESP rs369470201
- ExAC rs369470201
- TOPMed rs369470201
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.15
- CADD 10.40
- PolyPhen-2 0.04
- SIFT 0.23
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available